PMC Links for Nucleotide (Select 208879460) - PMC

Select item 28073091.

The β Subunit of Voltage-gated Ca²⁺ Channels Interacts with and Regulates the Activity of a Novel Isoform of Pax6

Yun Zhang, Yoichi Yamada, Mingming Fan, Saroja D. Bangaru, Bochao Lin, Jian Yang

J Biol Chem. 2010 Jan 22; 285(4): 2527–2536. Published online 2009 Nov 16. doi: 10.1074/jbc.M109.022236

PMCID:: PMC2807309

Select item 64605602.

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

Alexandra Yu. Filatova, Tatiana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Rena A. Zinchenko, Mikhail Yu. Skoblov

Eur J Hum Genet. 2019 Mar; 27(3): 488–493. Published online 2018 Oct 12. doi: 10.1038/s41431-018-0288-y

PMCID:: PMC6460560

Abstract Article PDF–666K

Select item 57025723.

Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns

Marina Riera, Ana Wert, Isabel Nieto, Esther Pomares

Mol Genet Genomic Med. 2017 Nov; 5(6): 709–719. Published online 2017 Aug 21. doi: 10.1002/mgg3.329

PMCID:: PMC5702572

Abstract Article PDF–2.4M

Select item 43166994.

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia

Sushil Kumar Dubey, Nagasubramanian Mahalaxmi, Perumalsamy Vijayalakshmi, Periasamy Sundaresan

Mol Vis. 2015; 21: 88–97. Published online 2015 Jan 27.

PMCID:: PMC4316699

Abstract Article PDF–1.4M

Select item 39252855.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Shery Thomas, Mervyn G Thomas, Caroline Andrews, Wai-Man Chan, Frank A Proudlock, Rebecca J McLean, Archana Pradeep, Elizabeth C Engle, Irene Gottlob

Eur J Hum Genet. 2014 Mar; 22(3): 344–349. Published online 2013 Aug 14. doi: 10.1038/ejhg.2013.162

PMCID:: PMC3925285

Abstract Article PDF–1.0M

Select item 28905746.

Cotylenin A inhibits cell proliferation and induces apoptosis and PAX6 mRNA transcripts in retinoblastoma cell lines

Yoshiko Kashiwagi, Nobuo Kato, Takeshi Sassa, Koichi Nishitsuka, Teiko Yamamoto, Hiroshi Takamura, Hidetoshi Yamashita

Mol Vis. 2010; 16: 970–982. Published online 2010 Jun 4.

PMCID:: PMC2890574

Abstract Article PDF–6.1M

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